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Tier II GS136736 • segregation of mitochondrial DNA QTL 3 (Smdq3, Published QTL Chr 6)

DESCRIPTION:

QTL associated with segregation of mitochondrial DNA QTL 3. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (21199207)

LABEL:

QTL-Smdq3-Mouse-Chr 6

SCORE TYPE:

Binary

DATE ADDED:

2012-04-02

DATE UPDATED:

2020-05-06

SPECIES:

URI:

http://www.informatics.jax.org/searches/accession_report.cgi?id=MGI:2179704

AUTHORS:

Jokinen R, Marttinen P, Sandell HK, Manninen T, Teerenhovi H, Wai T, Teoli D, Loredo-Osti JC, Shoubridge EA, Battersby BJ

TITLE:

Gimap3 regulates tissue-specific mitochondrial DNA segregation.

JOURNAL:

PLoS genetics Oct 2010, Vol 6, pp. e1001161

ABSTRACT:

Mitochondrial DNA (mtDNA) sequence variants segregate in mutation and tissue-specific manners, but the mechanisms remain unknown. The segregation pattern of pathogenic mtDNA mutations is a major determinant of the onset and severity of disease. Using a heteroplasmic mouse model, we demonstrate that Gimap3, an outer mitochondrial membrane GTPase, is a critical regulator of this process in leukocytes. Gimap3 is important for T cell development and survival, suggesting that leukocyte survival may be a key factor in the genetic regulation of mtDNA sequence variants and in modulating human mitochondrial diseases. PUBMED: 20976251
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Annotation Information

No sequence read archive data associated with this GeneSet.

Social Control, Formal (D012926)

Humans (D006801)

DNA (D004247)

GTP Phosphohydrolases (D020558)

Mice (D051379)

Prejudice (D011287)

Leukocytes (D007962)

DNA, Mitochondrial (D004272)

Mitochondrial Diseases (D028361)

Cells (D002477)

Membranes (D008566)

Mitochondrial Membranes (D051336)

Survival (D013534)

Mutation (D009154)

cell (GO:0005623)

membrane (GO:0016020)

mitochondrial outer membrane (GO:0005741)

mitochondrial membrane (GO:0031966)

cell development (GO:0048468)

QTL map (EDAM_data:1860)

Gene List • 288 Genes

Uploaded As	Gene Symbol Gene Symbol Entrez Ensembl Gene UniGene MGI FlyBase WormBase RGD ZFIN	Homology	Score	Priority	LinkOuts	Emphasis

GeneSet Information

Tier II GS136736 • segregation of mitochondrial DNA QTL 3 (Smdq3, Published QTL Chr 6)

Annotation Information

Gene List • 288 Genes

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GeneSet Information

Tier II GS136736 • segregation of mitochondrial DNA QTL 3 (Smdq3, Published QTL Chr 6)

Annotation Information

Gene List • 288 Genes

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